Haplogroup C-M130
| Haplogroup C | |
|---|---|
CF | |
| Descendants | C1 F3393/Z1426 (previously CxC3) C2 (previously C3*) M217[4] |
| Defining mutations | M130/RPS4Y711, P184, P255, P260 |
Haplogroup C is a major
The haplogroup is also found with moderate to low frequency among many present-day populations of
Southwest Asia
.
In addition to the basal paragroup C*, this haplogroup now has two major branches: C1 (F3393/Z1426; previously CxC3, i.e. old C1, old C2, old C4, old C5 and old C6) and C2 (M217; the former C3).
Origins
Haplogroup C-M130 likely originates from an exodus of modern humans out of Africa, which spread east from Southwest Asia and gradually colonized South Asia, East Asia and Oceania. Research is divided as to how this migration took place; most studies support a Northern Route through Siberia while others support a Southern Route hypothesis, in which the carriers of haplogroup C migrated along the coasts of India and Southeast Asia to get to China.[2]
Haplogroup C-M130 seems to have come into existence shortly after
Haplogroup CF
, and in turn Haplogroup C, derived. This was probably at least 60,000 years ago.
Haplogroup C-M130 attains its highest frequencies among the indigenous populations of Kazakhstan, Mongolia, the Russian Far East, Polynesia, certain groups of Australia, and at moderate frequency in Korea and Manchu people. It is therefore hypothesized that Haplogroup C-M130 either originated or underwent its longest period of evolution in the greater Central Asian region or in Southeast Asian regions. Its expansion in East Asia is suggested to have started approximately 40,000 years ago.[2]
Males carrying C-M130 are believed to have
Na-Dené-speaking peoples into the northwest Pacific coast of North America
.
Asia is also the area in which
Manchurians. It is also found at a medium frequency in Koreans, indigenous inhabitants of the Russian Far East, certain Aboriginal Australians groups and at moderate frequencies elsewhere throughout Asia and Oceania. Carriers of Haplogroup C among the later Jōmon people of Japan and certain Paleolithic and Neolithic Europeans carried C1a, C1b, and C1a2. Whereas Haplogroup D is found at high frequencies only amongst Tibetans, Japanese peoples, and Andaman Islanders, and has been found neither in India nor among the aboriginal inhabitants of the Americas or Oceania.[1]
According to Sakitani et al., haplogroup C-M130 originated in
Eastern Eurasian hunter gatherers as well as in ancient samples of East and Southeast Asia and Europe.[1]
Structure
C* (M130/Page51/RPS4Y711, M216)
- C1 (F3393)
- C1a (CTS11043)
- C1b (F1370)
- C1b1 (K281)
- C1b1a (B66/Z16458)
- C1b1a1 (previously C5) - (M356)
- C1b1a2 (B65)
- C1b1a (B66/Z16458)
- C1b2 (B477/Z31885)
- C1b2a (previously C2) - (M38)
- C1b2a1 (M208)
- C1b2a1a (P33)
- C1b2a1b (P54)
- C1b2a1 (M208)
- C1b2b(previously C4) - (M347)
- C1b2b1 (M210)
- C1b2a (previously C2) - (M38)
- C1b1 (K281)
- C2(previously C3) - (M217)
- C2a (M93)
- C2b (L1373/F1396)
- C2b1
- C2b1a
- C2b1a1
- C2b1a1a (P39)
- C2b1a2 (previously C3c) - (M48)
- C2b1a1
- C2b1a
- C2b1
- C2c (C-F1067)
- C2c1 (F2613/Z1338)
- C2c1a (Z1300)
- C2c1a1
- C2c1a1a
- C2c1a1a1 (M407)
- C2c1a1a
- C2c1a1
- C2c1a (Z1300)
- C2c1 (F2613/Z1338)
- Other, untaxonomised subclades:
(The above phylogenetic structure of haplogroup C-M130 subclades is based on the ISOGG 2015 tree, YCC 2008 tree and subsequent published research.[7][8])
Distribution
The distribution of Haplogroup C-M130 is generally limited to populations of Siberia, parts of East Asia, Oceania, and the Americas. Due to the tremendous age of Haplogroup C, numerous secondary mutations have had time to accumulate, and many regionally important subbranches of Haplogroup C-M130 have been identified.
Up to 46% of
C1b2b* (C-M347*) or C1b2b1 (C-M210), before contact with and significant immigration by Europeans, according to a 2015 study by Nagle et al.[10] That is, 20.0% of the Y-chromosomes of 657 modern individuals, before 56% of those samples were excluded as "non-indigenous". C-M130* was apparently carried by up to 2.7% of Aboriginal males before colonisation; 43% carried C-M347, which has not been found outside Australia. The other haplogroups of Aboriginal Australians is similar to Papuans and other Negritos (Haplogroup S-M230 and M-P256).[10][11]
Low levels of C-M130* are carried by males:
- from the Indian subcontinent, Sri Lanka and Southeast Asia,[7] and;
- in Europe among males with the surname Llach originating from Garrotxa, Catalonia, Spain (but not males with the same surname from other areas).[12]
Basal C1a* (CTS11043) was found in an Upper Paleolithic Europeans (Aurignacians), GoyetQ116-1 and Pestera Muerii2.[13]
C1b was identified in prehistoric remains, dating from 34,000 years BP, found in Russia and known as "
Kostenki 14".[14]
Na-Dené
populations.
Other subclades are specific to certain populations, within a restricted geographical range; even where these other branches are found, they tend to appear as a very low-frequency, minor component of the palette of Y-chromosome diversity within those territories:
- C-M8 (C1a1), is now found regularly only with low frequency (approximately 5%; range 3.3% — 10% of all samples) in Japan. It also has been found in an academic study in one individual on Jeju Island and in commercial testing in one individual who has reported an origin in Liaoning province of China and one individual who has reported an origin in Seoul. The ancient Jōmon people had a frequency of about 30% of C1a1.
- C-B66/Z16458 (C1b1a) is found at low frequencies in
- C-M356 (C1b1a1; previously C5) has been detected with low frequency in samples from
- C-M38 (C1b2a; previously C2), among some local populations within Indonesia, Melanesia (especially New Guinea), Micronesia, and some islands of Polynesia, C-M38 has become the modal haplogroup, probably due to severe founder effects and genetic drift.[7]
- C-P33 (C1b2a1a): found at high frequencies among Polynesian males.[16][31]
- C-P55 (C1b3) is found at low frequency in the New Guinea Highlands.[6]
- C-M93 (C2a) is found sporadically in Japanese people.[18][32]
- C-L1373/F1396 (C2b) has been identified in Central Asia.[citation needed]
- C-P39 (C2b1a1a) is found among several indigenous peoples of North America, including some
- C-P53.1 (C2c) is borne by about 10% of Xinjiang
- C-F2613/Z1338 (C2e): both Central Asia and East Asia.[7]
- C-M407 (C2e1a1a) has been found with high frequency among
- C-P343 occurs at a high frequency among males from Lembata (17.4% of 92 samples), with lower frequencies in Flores, Pantar, and Timor.[5] P343 is outside C1a1 (M8), C1b2a (M38), C2 (ex-C3; M217), C1b2b (previously C4; M347), or C1b1a1 (previously C5; M356), but its relation to other branches is not yet tested.[5]
- Unspecified instances of C-M130, which possibly may belong to one of the above subclades, include:
- Kayser et al. (2006) found C-M130(xM38, 390.1del, M217) in 10.3% (4/39) of a sample of ethnic minority groups from the Philippines, 10.0% (6/60) of a sample from
- C-RPS4Y (now C-RPS4Y711) (xM38) Y-DNA is quite common among populations of the Indonesian province of East Nusa Tenggara and independent East Timor: 13/31 = 41.9% Lembata, 16/71 = 22.5% Flores, 5/43 = 11.6% Solor, 10/96 = 10.4% Adonara, 3/39 = 7.7% East Timor, 1/26 = 3.8% Alor, 1/38 = 2.6% Pantar. All C-RPS4Y(xM38) individuals except the singleton from Alor were described as Austronesian speakers.[38]
- C-RPS4Y (now C-RPS4Y711) (xM38, M217) Y-DNA occurs, according to a study published in 2010, at rather high frequencies in most populations of central Mandar, 1/9 = 11.1% Timor, but only 1/350 = 0.3% Sumba). C-RPS4Y(xM38, M217) Y-DNA generally becomes rare toward the west (2/61 = 3.3% Java, 1/32 = 3.1% Malaysia, 9/641 = 1.4% Balinese, 0/38 Batak Toba, 0/60 Nias, but 10/74 = 13.5% Mentawai) and toward the east (1/28 = 3.6% Alor, 0/30 Moluccas, 1/15 = 6.7% PNG Coast, 0/33 PNG Highland, 0/10 Nasioi, 0/44 Maewo (Vanuatu), 1/16 = 6.3% Micronesia, 0/64 Polynesia).[39]
- C-RPS4Y711(xM8, M217) Y-DNA has been found in 17% (6/35) of a sample of Ewenki from northeastern China.[15]
- C-RPS4Y711(xM8, M38, M217) has been found in 48.5% (16/33) of a sample of Uyghurs.[16]
- Zhong et al. (2010) have found C-M130(xM8, M38, M217, M347, M356, P55) Y-DNA in 9.09% (1/11) of a sample of Mulao from Guangxi, 8.20% (5/61) of a sample of Hui from Ningxia, 7.96% (9/113) of a sample of Yao from Guangxi, 7.69% (2/26) of a sample of Tujia from Hubei, 6.90% (2/29) of a sample of Shui from Guizhou, 3.28% (2/61) of a sample of Xibe from Xinjiang, 1.45% (1/69) of a sample of Zhuang from Guangxi, 0.92% (1/109) of a sample of Buyi from Guizhou, 0.87% (2/231) of a sample of Han from Guizhou, and 0.74% (1/136) of a sample of Han from Yunnan.[2] A majority of these individuals share an identical 8-loci Y-STR haplotype: DYS19=15, DYS389I=12, DYS389b=16, DYS388=13, DYS390=21, DYS391=10, DYS392=11, DYS393=12.[2]
- Di Cristofaro et al. (2013) have found C-M130(xC2-PK2/M386, C1b1a1-M356) in 1.9% (1/53) of a sample of Pashtun from Kunduz, Afghanistan and in 1.4% (1/69) of a sample of Hazara from Bamiyan, Afghanistan.[40]
- Wang et al. (2014) have found C-M130(xM105, M38, M217, M347, M356) in 5.6% (1/18) of a sample of Horpa Qiang from Danba County of Sichuan, China and in 2.2% (1/46) of a sample of Khams Tibetans from Xinlong County of Sichuan, China.[41] The Y-STR haplotypes of these two individuals match the modal C* haplotype from the study by Zhong et al. (2010) at every comparable locus.[41]
- "C-M216", an SNP that is now regarded as synonymous with C-M130 – (xM8, M38, M217, M210, M356) have been found in 3.9% (3/77) of a sample of the general population of Jochids and Uzbeks;[citation needed]
Phylogenetics
Phylogenetic history
Prior to 2002, there were in academic literature at least seven naming systems for the Y-Chromosome Phylogenetic tree. This led to considerable confusion. In 2002, the major research groups came together and formed the Y-Chromosome Consortium (YCC). They published a joint paper that created a single new tree that all agreed to use. The table below brings together all of these works at the point of the landmark 2002 YCC Tree. This allows a researcher reviewing older published literature to quickly move between nomenclatures.
| YCC 2002/2008 (Shorthand) | (α) | (β) | (γ) | (δ) | (ε) | (ζ) | (η) | YCC 2002 (Longhand) | YCC 2005 (Longhand) | YCC 2008 (Longhand) | YCC 2010r (Longhand) | ISOGG 2006 | ISOGG 2007 | ISOGG 2008 | ISOGG 2009 | ISOGG 2010 | ISOGG 2011 | ISOGG 2012 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C-M216 | 10 | V | 1F | 16 | Eu6 | H1 | C | C* | C | C | C | C | C | C | C | C | C | C |
C-M8 |
10 | V | 1F | 19 | Eu6 | H1 | C | C1 | C1 | C1 | C1 | C1 | C1 | C1 | C1 | C1 | C1 | C1 |
| C-M38 | 10 | V | 1F | 16 | Eu6 | H1 | C | C2* | C2 | C2 | C2 | C2 | C2 | C2 | C2 | C2 | C2 | C2 |
| C-P33 | 10 | V | 1F | 18 | Eu6 | H1 | C | C2a | C2a | C2a1 | C2a1 | C2a | C2a | C2a1 | C2a1 | C2a1 | removed | removed |
| C-P44 | 10 | V | 1F | 17 | Eu6 | H1 | C | C3* | C3 | C3 | C3 | C3 | C3 | C3 | C3 | C3 | C3 | C3 |
| C-M93 | 10 | V | 1F | 17 | Eu6 | H1 | C | C3a | C3a | C3a | C3a | C3a | C3a | C3a | C3a | C3a | C3a | C3a1 |
| C-M208 | 10 | V | 1F | 17 | Eu6 | H1 | C | C3b | C2b | C2a | C2a | C2b | C2b | C2a | C2a | C2a | C2a | C2a |
| C-M210 | 36 | V | 1F | 17 | Eu6 | H1 | C | C3c | C2c | C4a | C4a | C4b | C4b | C4a | C4a | C4a | C4a | C4a |
Research publications
The following research teams per their publications were represented in the creation of the YCC Tree.
Notable members
One particular
patrilineal descent from Genghis Khan
.
A research paper published in 2017 - "Genetic trail for the early migrations of Aisin Gioro, the imperial house of the Qing dynasty"Aisin Gioro clan belongs to haplogroup C3b1a3a2-F8951, a brother branch of C3*-Star Cluster (currently named as C3b1a3a1-F3796, once linked to Genghis Khan).
See also
Genetics
- genetic genealogy
- Haplogroup
- Haplotype
- Human Y-chromosome DNA haplogroup
- molecular phylogeny
- Paragroup
- Subclade
- Y-chromosome haplogroups in populations of the world
- Y-DNA haplogroups by ethnic group
- Y-DNA haplogroups in populations of East and Southeast Asia
- Y-DNA haplogroups in populations of Oceania
Y-DNA C Subclades
Y-DNA backbone tree
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Footnotes
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References
- ^ a b c d 崎谷満『DNA・考古・言語の学際研究が示す新・日本列島史』（勉誠出版 2009年）(in Japanese)
- ^ PMID 20448651.
- ^ "At present, most of the archaeological and genetic evidence supports that the earliest African exodus went out of Africa via the Red Sea and then rapidly migrated to mainland Southeast Asia through the Indian coastline, and eventually reached Oceania.36, 37, 38, 39 Recent Y-chromosome and mitochondrial DNA analysis in Australia and New Guinea has shown that Hg C is likely one of the earliest Out-of-Africa founder types,12 which was also proposed in another study,6 and that mitochondrial DNA lineages consisting of the founder types (M and N) are dated to approximately 50–70 KYA.12" ... "We propose that Hg C was derived from the African exodus and gradually colonized South Asia, Southeast Asia, Oceania and East Asia by a single Paleolithic migration from Africa to Asia and Oceania, which occurred more than 40 KYA."
- ^ "ISOGG 2018 Y-DNA Haplogroup C".
- ^ PMID 25078354.
- ^ PMID 16754639.
- ^ a b c d e f g h ISOGG, 2015 "Y-DNA Haplogroup C and its Subclades – 2015" (15 September 2015).
- PMID 18385274.
- PMID 23731529.
- ^ S2CID 2225529.
- PMID 17496137.
- ^ Cognoms Catalans, n.d., Resultat (15 September 2015). (The Cognoms Catalans project, which researches "genetic surnames" in Catalonia, Valencia and the Balearic Islands, is based at Universitat Pompeu Fabra, Barcelona.)
- PMID 27135931.
- S2CID 206632421. Archived from the original(PDF) on 2016-08-29.
- ^ PMID 16489223.
- ^ PMID 16328082.
- PMID 14997363.
- ^ PMID 16400607.
- ^ PMID 11731934.
- PMID 11526236.
- S2CID 27115596.
- PMID 23145109.
- ^ "Dienekes' Anthropology Blog: Brown-skinned, blue-eyed, Y-haplogroup C-bearing European hunter-gatherer from Spain (Olalde et al. 2014)". 2014-01-26.
- ^ http://biorxiv.org/content/biorxiv/early/2015/02/10/013433.full.pdf [bare URL PDF]
- PMID 27135931.
- ^ PMID 17436243.
- ^ PMID 19573232.
- ^ PMID 17928816.
- ^ PMID 19772609.
- PMID 18385274.
- S2CID 4834817.
- S2CID 12893406.
- PMID 14595095.
- S2CID 31651899.
- PMID 18610830.
- ^ a b c Boris Malyarchuk, Miroslava Derenko, Galina Denisova, et al., "Phylogeography of the Y-chromosome haplogroup C in northern Eurasia." Annals of Human Genetics (2010) 74,539–546. doi: 10.1111/j.1469-1809.2010.00601.x.
- ^ Manfred Kayser, Silke Brauer, Richard Cordaux, et al. (2006), "Melanesian and Asian Origins of Polynesians: mtDNA and Y Chromosome Gradients Across the Pacific." Mol. Biol. Evol. 23(11):2234–2244. doi:10.1093/molbev/msl093
- PMID 19414523.
- S2CID 4819475.
- ^ J D Cristofaro et al., 2013, "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge", http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0076748
- ^ a b Wang C-C, Wang L-X, Shrestha R, Zhang M, Huang X-Y, et al. (2014), "Genetic Structure of Qiangic Populations Residing in the Western Sichuan Corridor." PLoS ONE 9(8): e103772. doi:10.1371/journal.pone.0103772
- S2CID 7685248.
Sources for conversion tables
- Capelli, Cristian; Wilson, James F.; Richards, Martin; Stumpf, Michael P.H.; et al. (February 2001). "A Predominantly Indigenous Paternal Heritage for the Austronesian-Speaking Peoples of Insular Southeast Asia and Oceania". The American Journal of Human Genetics. 68 (2): 432–443. PMID 11170891.
- Hammer, Michael F.; Karafet, Tatiana M.; Redd, Alan J.; Jarjanazi, Hamdi; et al. (1 July 2001). "Hierarchical Patterns of Global Human Y-Chromosome Diversity". Molecular Biology and Evolution. 18 (7): 1189–1203. PMID 11420360.
- Jobling, Mark A.; Tyler-Smith, Chris (2000), "New uses for new haplotypes", Trends in Genetics, 16 (8): 356–62, PMID 10904265
- Kaladjieva, Luba; Calafell, Francesc; Jobling, Mark A; Angelicheva, Dora; et al. (February 2001). "Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages". European Journal of Human Genetics. 9 (2): 97–104. S2CID 21432405.
- Karafet, Tatiana; Xu, Liping; Du, Ruofu; Wang, William; et al. (September 2001). "Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes". The American Journal of Human Genetics. 69 (3): 615–628. PMID 11481588.
- Semino, O.; Passarino, G; Oefner, PJ; Lin, AA; et al. (2000), "The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective", Science, 290 (5494): 1155–9, PMID 11073453
- Su, Bing; Xiao, Junhua; Underhill, Peter; Deka, Ranjan; et al. (December 1999). "Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age". The American Journal of Human Genetics. 65 (6): 1718–1724. PMID 10577926.
- Underhill, Peter A.; Shen, Peidong; Lin, Alice A.; Jin, Li; et al. (November 2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26 (3): 358–361. S2CID 12893406.
External links
Wikimedia Commons has media related to Haplogroup C of Y-DNA.
- C3-M217 FTDNA
- Spread of Haplogroup C, from National Geographic
- https://groups.google.com/forum/#!topic/mintamil/k1GofGgPfXY
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Footnotes
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